Results 41 to 50 of about 373 (84)

Diagnostic findings and yield of investigations for children with developmental regression

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Childhood conditions that feature developmental regression are poorly understood. Phenotype–genotype characterization and diagnostic yield data are needed to inform clinical decision‐making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations.
Kirsten Furley, Matthew F. Hunter, Michael Fahey, Katrina Williams   +3 more
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness – A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease

Eye and Brain
Nikolaos Gkalapis,1,2,* Simon Dulz,1,* Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf,
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y   +8 more
doaj  

Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa. [PDF]

Healthcare (Basel)
Due C, Quinn J, Gissen P, Schulz A, Specchio N, de Los Reyes E, Butt T.   +6 more
europepmc   +1 more source

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]

Clin Transl Sci, 2023
Hon YY, Wang J, Abodakpi H, Balakrishnan A, Pacanowski M, Chakder S, Smpokou P, Donohue K, Wang YC.   +8 more
europepmc   +1 more source

Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease. [PDF]

Aust Prescr, 2019
europepmc   +1 more source

Conversion of a ventricular rickham reservoir to a subcutaneous chest port for repeated intraventricular enzyme replacement therapy: technical note and surgical considerations. [PDF]

Childs Nerv Syst
Gopalka M, Manocha S, Romanski K, Hoeman E, Boop S, Lam SK.   +5 more
europepmc   +1 more source

Patient Perspective-Where Does the Value for Money of a Treatment Really Lie? [PDF]

J Inherit Metab Dis
Mathieson TA, Evans WRH, Hopkin JL, Cowie SL.   +3 more
europepmc   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. [PDF]

Neuropediatrics
Priglinger CS, Courage C, Lotz-Havla AS, Gerhardt M, Ehrt O, Kurz M, Pudritz H, Rudolph G, Jackson CB, Maier EM.   +9 more
europepmc   +1 more source